GEN1 Chromosome 2

GEN1 structure-specific endonuclease
15 variants 1 Drug Response 14 Health Risk

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What This Gene Does
This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Rad2/XPG endonuclease family
Locus Type
gene with protein product
Location
2p24.2
Ensembl
ENSG00000178295
Associated Conditions (2)
Olaparib response
GEN1-related disorder
Key Variants
All Variants (15)
RSID Category Clinical Significance Conditions
RS1014247385 Drug Response drug response Olaparib response, Olaparib response
RS143372639 Health Risk Conflicting classifications of pathogenicity
RS148028719 Health Risk Conflicting classifications of pathogenicity
RS201084834 Health Risk Conflicting classifications of pathogenicity
RS2545627174 Health Risk Conflicting classifications of pathogenicity
RS369584932 Health Risk Conflicting classifications of pathogenicity
RS372381849 Health Risk Conflicting classifications of pathogenicity GEN1-related disorder, GEN1-related disorder
RS374176559 Health Risk Conflicting classifications of pathogenicity
RS375511356 Health Risk Conflicting classifications of pathogenicity
RS376402032 Health Risk Conflicting classifications of pathogenicity
RS759922532 Health Risk Conflicting classifications of pathogenicity
RS762962608 Health Risk Conflicting classifications of pathogenicity GEN1-related disorder, GEN1-related disorder
RS763819025 Health Risk Conflicting classifications of pathogenicity
RS773253388 Health Risk Conflicting classifications of pathogenicity
RS774454074 Health Risk Conflicting classifications of pathogenicity
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